MCID: SYN001
MIFTS: 48

Syndactyly malady

Categories: Genetic diseases, Bone diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Syndactyly

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Aliases & Descriptions for Syndactyly:

Name: Syndactyly 10 47 12 36 24
Chromosome 2q35 Duplication Syndrome 10
Syndactyly, Type I 65
 
Webbing of Digits 10
Symphalangism 10
Symphalangy 10

Classifications:



External Ids:

Disease Ontology10 DOID:11193
ICD1027 Q70, Q70.9
ICD9CM29 755.1
MeSH36 D013576
NCIt42 C87125
UMLS65 C0039075, C1861380

Summaries for Syndactyly

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Wikipedia:68 Syndactyly (from Greek συν- meaning \"together\" and δακτυλος meaning \"finger\") is a... more...

MalaCards based summary: Syndactyly, also known as chromosome 2q35 duplication syndrome, is related to poland syndrome and apert syndrome. An important gene associated with Syndactyly is HOXD13 (Homeobox D13). Affiliated tissues include skin, bone and lung, and related mouse phenotypes are digestive/alimentary and hearing/vestibular/ear.

Disease Ontology:10 A synostosis that results in the fusion of two or more digits.

Related Diseases for Syndactyly

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Diseases in the Syndactyly family:

Syndactyly, Type V Syndactyly, Type Iii
Syndactyly, Type Iv Syndactyly Type 8
Syndactyly Type 6

Diseases related to Syndactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 236)
idRelated DiseaseScoreTop Affiliating Genes
1poland syndrome32.4FGFR2, FGFR3, GLI3
2apert syndrome32.4FGFR2, FGFR3
3lipoma30.1FGFR2, TP63
4asphyxiating thoracic dystrophy29.6FGFR2, GLI3, TP63
5thanatophoric dysplasia, type i29.2FGFR2, FGFR3
6syndactyly, type iii12.3
7syndactyly, type v12.3
8syndactyly, type iv12.3
9syndactyly, mesoaxial synostotic, with phalangeal reduction12.2
10brachydactyly-syndactyly syndrome12.1
11cenani-lenz syndactyly syndrome12.1
12ectodermal dysplasia-syndactyly syndrome 112.0
13syndactyly type 611.9
14ectodermal dysplasia-syndactyly syndrome11.9
15ectodermal dysplasia-cutaneous syndactyly syndrome11.9
16syndactyly type 811.9
17syndactyly type 1 with cataracts and mental retardation11.9
18syndactyly-polydactyly-earlobe syndrome11.8
19synpolydactyly11.8
20ectodermal dysplasia-syndactyly syndrome 211.8
21blepharophimosis with ptosis, syndactyly, and short stature11.8
22ectodermal dysplasia mental retardation syndactyly11.8
23star syndrome11.8
24coronal synostosis, syndactyly and jejunal atresia11.8
25craniosynostosis, philadelphia type11.8
26aphalangia partial with syndactyly and duplication of metatarsal iv11.7
27cleft lip palate oligodontia syndactyly pili torti11.7
28eyebrows duplication of, with stretchable skin and syndactyly11.7
29hydrops ectrodactyly syndactyly11.7
30sclerocornea, syndactyly, ambiguous genitalia11.7
31syndactyly cataract mental retardation11.7
32syndactyly ectodermal dysplasia cleft lip palate hand foot11.7
33tricho odonto onychodysplasia syndactyly dominant type11.7
34aphalangy-syndactyly-microcephaly syndrome11.7
35autosomal dominant trichoodontoonychodysplasia-syndactyly11.7
36eyebrow duplication-syndactyly syndrome11.7
37ptosis-syndactyly-learning difficulties syndrome11.7
38syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome11.7
39fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome11.7
40brachydactyly-syndactyly, zhao type11.7
41timothy syndrome11.6
42filippi syndrome11.5
43synpolydactyly, type ii11.5
44fraser syndrome11.4
45zygodactyly 111.4
46zygodactyly type 211.2
47zygodactyly type 311.2
48zygodactyly type 411.2
49sclerosteosis11.2
50cleft lip/palate-ectodermal dysplasia syndrome11.2

Graphical network of the top 20 diseases related to Syndactyly:



Diseases related to syndactyly

Symptoms for Syndactyly

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Drugs & Therapeutics for Syndactyly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
2Study of Skeletal Disorders and Short StatureCompletedNCT00001754
3Genetic Analysis of Fraser Syndrome and Fryns SyndromeCompletedNCT00032877
4Syndactyly Repair: Comparison of Skin Graft and No Skin Graft TechniquesActive, not recruitingNCT01416090
5Treatment of Proximal Interphalangeal Joint Injuries. Clinical Efficiency of Syndactyly Treatment and Digital CompressionNot yet recruitingNCT02548260

Search NIH Clinical Center for Syndactyly


Cochrane evidence based reviews: syndactyly

Genetic Tests for Syndactyly

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Anatomical Context for Syndactyly

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MalaCards organs/tissues related to Syndactyly:

33
Skin, Bone, Lung, Liver, Eye, Thyroid, Prostate

Animal Models for Syndactyly or affiliated genes

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MGI Mouse Phenotypes related to Syndactyly:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7FGFR2, FGFR3, FRAS1, GLI3, HOXD13, TP63
2MP:00053778.6FGFR2, FGFR3, FREM2, GJA1, GLI3
3MP:00053898.4FGFR2, FGFR3, FREM2, GJA1, GLI3, HOXD13
4MP:00030128.2FBXW4, FGFR2, FGFR3, FRAS1, GJA1, GLI3
5MP:00053807.9FBXW4, FGFR2, FREM2, GJA1, GLI3, GRIP1
6MP:00053827.6FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
7MP:00053847.5BHLHA9, FBN2, FGFR2, FGFR3, FRAS1, GJA1
8MP:00053887.3FBN2, FGFR2, FGFR3, FRAS1, FREM2, GJA1
9MP:00053677.1FGFR2, FGFR3, FRAS1, FREM2, GLI3, GRIP1
10MP:00107717.0FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
11MP:00053856.9FBN2, FGFR2, FRAS1, FREM2, GJA1, GLI3
12MP:00053916.8FBN2, FGFR2, FGFR3, FRAS1, FREM2, GJA1
13MP:00053906.1FBN2, FBXW4, FGFR2, FGFR3, FRAS1, FREM2
14MP:00053785.8FBN2, FGFR2, FGFR3, FRAS1, FREM2, GJA1
15MP:00053715.6BHLHA9, FBN2, FBXW4, FGFR2, FGFR3, FRAS1
16MP:00107685.5FBN2, FBXW4, FGFR2, FGFR3, FRAS1, FREM2

Publications for Syndactyly

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Articles related to Syndactyly:

(show top 50)    (show all 455)
idTitleAuthorsYear
1
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. (26882209)
2016
2
Dorsal plane-shaped advancement flap for the reconstruction of web space in syndactyly without skin grafting: A preliminary report. (26190763)
2015
3
Syndactyly Web Space Reconstruction Using the Tapered M-to-V Flap: A Single-Surgeon, 30-Year Experience. (26163923)
2015
4
Preoperative electrocardiograms for nonsyndromic children with hand syndactyly. (25542431)
2015
5
Syndactyly correction using a venous flap with the plantar cutaneous venous arch. (24841825)
2014
6
Formation of normal interdigital web spaces in the hand revisited: implications for the pathogenesis of syndactyly in humans and experimental animals. (23719174)
2013
7
Bilateral macrodystrophia lipomatosa with syndactyly: a case report and literature review. (24164136)
2013
8
Long-term aesthetic outcome of fingertip reconstruction in complete syndactyly release. (23027834)
2013
9
Treatment of congenital syndactyly of the fingers. (23970273)
2013
10
The use of IntegraAr bilaminar dermal regeneration template in apert syndactyly reconstruction: a novel alternative to simplify care and improve outcomes. (21775231)
2012
11
A rare association of long QT syndrome and syndactyly: Timothy syndrome (LQT 8). (21915623)
2011
12
Correction of syndactyly using a dorsal separated V-Y advancement flap and a volar triangular flap in adults. (21301304)
2011
13
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
14
Syndactyly and preaxial synpolydactyly in the single Sfrp2 deleted mutant mice. (18729207)
2008
15
Genetic analysis of syndactyly in German Holstein cattle. (16427589)
2006
16
Macrodactyly, syndactyly, and localized gigantism of the forefoot. A case report. (16878777)
2005
17
Contrary intermittent skin release of complete syndactyly without skin graft in adults. (16186698)
2005
18
Acquired syndactyly secondary to acrodermatitis continua of Hallopeau. (15888186)
2005
19
Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. (15194949)
2004
20
Clinical experience using the dorsal reverse metacarpal flap for the treatment of congenital syndactyly: report of four cases. (16518217)
2003
21
A case of a rare association of spastic paraplegia and type III syndactyly. (11784386)
2002
22
The open finger technique for release of syndactyly. (11560439)
2001
23
The open finger technique for the release of syndactyly. (11162004)
2001
24
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. (10678662)
2000
25
Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. (10735635)
2000
26
Treatment of syndactyly. (16801754)
1998
27
Identity-by-descent mapping of recessive traits in livestock: application to map the bovine syndactyly locus to chromosome 15. (8796345)
1996
28
In vitro model of syndactyly replicates the morphologic features observed in vivo. (7568495)
1995
29
A new form of long QT syndrome associated with syndactyly. (7798527)
1995
30
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. (7717420)
1995
31
Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia with syndactyly. (8141890)
1994
32
Surgical management of syndactyly in a dog. (7890572)
1994
33
Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. (8116666)
1994
34
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. (8110413)
1993
35
Nonadjacent syndactyly in the congenital constriction band syndrome. (1311343)
1992
36
Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia. (1654744)
1991
37
Surgical method for treatment of syndactyly with osseous fusion of the distal phalanges. (1845781)
1991
38
Local epidermoplasty for syndactyly. (1649142)
1991
39
Syndactyly. (2176654)
1990
40
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. (2167611)
1990
41
Hereditary bovine syndactyly: diagnosis in bovine fetuses. (3033869)
1987
42
Syndactyly induced by Janus Green B in the embryonic chick leg bud: a reexamination. (6099849)
1984
43
Syndactyly and split hand. Supplement. (213354)
1978
44
An operation for syndactyly, and its results. (185638)
1976
45
Management of burn syndactyly. (4367128)
1974
46
Micrognathia, hypodontia and syndactyly. (4375510)
1971
47
Mandibulo-facial dysostosis with syndactyly. (4319056)
1970
48
Bilateral ptosis and atypical slant eyes associated with unilateral syndactyly, adactyly and brachyphalangia. (20246987)
1946
49
Unusual Form of Syndactyly. (19983292)
1923
50

Variations for Syndactyly

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Expression for genes affiliated with Syndactyly

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Search GEO for disease gene expression data for Syndactyly.

Pathways for genes affiliated with Syndactyly

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GO Terms for genes affiliated with Syndactyly

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Biological processes related to Syndactyly according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:006052710.6FGFR2, HOXD13
2limb morphogenesisGO:003510810.6GLI3, HOXD13
3squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:006052910.5FGFR2, TP63
4positive regulation of phospholipase activityGO:001051810.4FGFR2, FGFR3
5embryonic digestive tract morphogenesisGO:004855710.4FGFR2, GLI3
6hair follicle developmentGO:000194210.3LRP4, TP63
7positive regulation of mesenchymal cell proliferationGO:000205310.3FBXW4, FGFR2
8regulation of branching involved in prostate gland morphogenesisGO:006068710.2FGFR2, HOXD13
9in utero embryonic developmentGO:000170110.1FGFR2, GJA1, GLI3
10bone morphogenesisGO:006034910.0FGFR2, FGFR3
11positive regulation of osteoblast differentiationGO:004566910.0GJA1, GLI3, TP63
12limb developmentGO:006017310.0FBXW4, GLI3, LRP4
13bone mineralizationGO:00302829.9FGFR2, FGFR3
14proximal/distal pattern formationGO:00099549.7GLI3, LRP4, TP63
15heart developmentGO:00075079.7FREM2, GJA1, GLI3
16anatomical structure formation involved in morphogenesisGO:00486469.7GLI3, TP63
17embryonic digit morphogenesisGO:00427339.5FBXW4, GJA1, GLI3, HOXD13, LRP4
18embryonic limb morphogenesisGO:00303268.3FBN2, FBXW4, FRAS1, GLI3, TP63

Molecular functions related to Syndactyly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.9FGFR2, FGFR3

Sources for Syndactyly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet